Endocrine Abstracts

Thyroid cancer (TC) is the most common endocrine tumor and its incidence has increased faster than in any other malignancy. Although TCs are usually well differentiated, disease recurrence or persistence is high, because of local and distant metastasis and therapeutic resistance. Among the different genetic alterations, BRAFV600E is the most frequent one. Several studies tried to establish a correlation between BRAFV600E and patients outcome, with controversial results. Nevert...

The need for thyroid residue ablation in papillary thyroid cancer (PTC), classified with the TNM staging (AJCC, 2002) as pT1, with a maximum diameter comprised between 1 and 2 cm (pT1/1-2) and/or multifocal, is still debated. Aim of this study was to compare the outcome of pT1N0M0 patients submitted or not to postsurgical radioiodine ablation. Consecutive patients followed-up at this Institution from 1996 to 2010 were enrolled. All pT1/1-2N0M0 cases were radioiodine ablated be...

The recent unavailability of pentagastrin (Pg) in several European Countries, prompted us to evaluate the potency and tolerability of the ‘high dose calcium test’ (Ca) in the stimulation of serum human calcitonin (hCt). We compared Pg- and Ca-stimulated hCt in 19 patients already treated for medullary thyroid cancer (MTC) in remission (n=19) or in persistence (n=13), in 18 patients with chronic thyroiditis and multinodular goiter, and in 15 healthy cont...

Incidental thyroid carcinoma (IC) is defined as a tumor diagnosed at histology after surgery for benign diseases and without a preoperative diagnosis of malignancy. Since the prevalence of IC reported in the literature is extremely variable (4.6–17%), mostly due to the limited number of cases, we aimed to study the features of IC in our large series. We retrospectively evaluated 1955 patients who consecutively underwent total thyroidectomy for non malignant diseases from ...

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a PS/LVAS phenotype, mutation screening of SLC26A4 fails to identify two disease-causing allele variants, suggesting that other genetic factors could be involved. Indeed, mutations in the SLC26A4 promoter (FBS1), in FOXI1, a transcriptional activator of SLC26A4, and in a K+ channel gene (KCNJ10) have been very re...

It is still debated if the coexistence of papillary thyroid cancer (PTC) with a thyroid autoimmune process is associated with a better or worst outcome. Moreover, though a direct relationship between oncogenes and the activation of a pro-inflammatory program has been documented, the genetic background of PTCs with associated autoimmunity is not known.Aim of the present study was to to investigate the clinical and molecular features of PTCs associated or ...

Congenital hypothyroidism is frequently associated with congenital cardiac malformations (CCM). Studies in knock-out mice showed that heart and great vessels organogenesis share some nuclear transcription factors with the embryonic thyroid, suggesting that thyroid defects may have a higher prevalence in children with CCM. The present study investigated thyroid function and morphology in 280 children (145 M/135 F, aged 0.3–12 years), affected by CCM (septal defects, ductus...

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

Thyroid cancer represents the second more frequent tumor among those diagnosed during pregnancy. Indeed, during pregnancy thyroid volume increases by 20–30% and new nodules can appear, due to the effect of choriogonadotropin which stimulates thyroid growth. Hence, it has been proposed that thyroid cancer diagnosed during pregnancy could harbour a poorer prognosis. Aim of the present study was to compare the clinical outcome in the following 3 groups of patients affected w...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor arising from parafollicular C-cells. Nowadays different targeted therapies are available, directed mostly against the main genetic driver of MTC, RET, and against the common pro-oncogenic pathways of VEGF, EGFR and c-MYC. Despite this, an escape phenomenon has been observed with sudden disease progression during treatment, leaving surgery as the only curative treatment. The evaluation of pre and post treatment ge...